Linked Data
ClinVar Variation Id:
285003
dbSNP Id:
rs141862527
ExAC:
X:19371288 G / A
gnomAD v2:
X-19371288-G-A
gnomAD v3:
X-19353170-G-A
gnomAD v4:
X-19353170-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19353170G>A , CM000685.2:g.19353170G>A | GRCh38 |
| NC_000023.10:g.19371288G>A , CM000685.1:g.19371288G>A | GRCh37 |
| NC_000023.9:g.19281209G>A | NCBI36 |
| NG_016781.1:g.14278G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.528G>A | ENSP00000348062.6:p.Ala176= | |
| ENST00000379805.4:c.507G>A | ENSP00000369133.3:p.Ala169= | |
| ENST00000417819.6:c.591G>A | ENSP00000404616.2:p.Ala197= | |
| ENST00000423505.6:c.621G>A | ENSP00000406473.2:p.Ala207= | |
| ENST00000696704.1:c.418+1763G>A | ENSP00000512823.1:n.418+1763G>A | |
| ENST00000696705.1:c.419-1321G>A | ENSP00000512824.1:n.419-1321G>A | |
| ENST00000422285.7:c.507G>A MANE Select | ENSP00000394382.2:p.Ala169= | |
| ENST00000355808.9:c.528G>A | ENSP00000348062.5:p.Ala176= | |
| ENST00000379805.3:c.507G>A | ENSP00000369133.3:p.Ala169= | |
| ENST00000379806.9:c.621G>A | ENSP00000369134.5:p.Ala207= | |
| ENST00000422285.6:c.507G>A | ENSP00000394382.2:p.Ala169= | |
| ENST00000479146.1:n.342G>A | ||
| ENST00000540249.5:c.507G>A | ENSP00000440761.1:p.Ala169= | |
| ENST00000545074.5:c.528G>A | ENSP00000438550.1:p.Ala176= | |
| NM_000284.3:c.507G>A | NP_000275.1:p.Ala169= | |
| NM_001173454.1:c.621G>A | NP_001166925.1:p.Ala207= | |
| NM_001173455.1:c.528G>A | NP_001166926.1:p.Ala176= | |
| NM_001173456.1:c.507G>A | NP_001166927.1:p.Ala169= | |
| XM_011545531.1:c.642G>A | XP_011543833.1:p.Ala214= | |
| XM_011545532.1:c.642G>A | XP_011543834.1:p.Ala214= | |
| XM_017029574.2:c.621G>A | XP_016885063.1:p.Ala207= | |
| NM_000284.4:c.507G>A MANE Select | NP_000275.1:p.Ala169= | |
| NM_001173454.2:c.621G>A | NP_001166925.1:p.Ala207= | |
| NM_001173455.2:c.528G>A | NP_001166926.1:p.Ala176= | |
| NM_001173456.2:c.507G>A | NP_001166927.1:p.Ala169= |